A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5613763



Internal ID21562068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232793059..232793059hg38UCSC Ensembl
chr1:232928805..232928805hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062936
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5613763
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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